ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1090A>G (p.Ile364Val)

dbSNP: rs886038909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244597 SCV000319018 uncertain significance Cardiovascular phenotype 2013-10-29 criteria provided, single submitter clinical testing The p.I364V variant (also known as c.1090A>G) is located in coding exon 9 of the DSP gene. This alteration results from a A to G substitution at nucleotide position 1090. The isoleucine at codon 364 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project.This amino acid position is well conserved in available vertebrate species.This variant is predicted to be benign by PolyPhen and tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.I364V remains unclear.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786304 SCV000925069 uncertain significance not provided no assertion criteria provided provider interpretation

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